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Different phenotypic expression of fabry disease in female monozygotic twins

✍ Scribed by T. Levade; F. Giordano; A. Maret; M.-C. Marguery; J. Bazex; R. Salvayre


Book ID
105314548
Publisher
Springer
Year
1991
Tongue
English
Weight
165 KB
Volume
14
Category
Article
ISSN
0141-8955

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Two male relatives with Fabry disease presented striking differences in clinical symptoms and age of onset. The propositus had retarded statural growth and skeletal dysplasia while his nephew suffered mainly from aggravating acroparesthesia and celiac disease. Fabry disease is an X-linked inborn err